syndroom van verstandelijke beperking, spasticiteit en ectrodactylie (aandoening) | | syndroom van verstandelijke beperking, spasticiteit en ectrodactylie | | syndroom van Jancar Jancar-syndroom
| | Intellectual disability, spasticity, ectrodactyly syndrome | | Jancar syndrome
| | Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet). |
| Id | 763743003 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
SNOMED CT to Orphanet simple map | 1891 |
SNOMED CT to ICD-10 extended map | Target | Q87.2 | Rule | TRUE | Advice | ALWAYS Q87.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|